Alpha-1 Antitrypsin (AAT) Deficiency
Authored by - Julie Eversole, Operations Manager at the Lung Center of America
Here at Lung Center of America, we treat several different pulmonary diseases. Let’s discuss Alpha-1 Antitrypsin (AAT) Deficiency.
Alpha-1 antitrypsin deficiency is a genetic disease, which means it’s passed down to you from your parents. It can cause serious lung or liver disease. You may also hear it called AAT deficiency. Symptoms often include trouble breathing and jaundiced, or yellow, skin.
You get the disease because your liver doesn't make enough of a protein called alpha-1 antitrypsin, or AAT. You need AAT to protect your lungs. Without it, infections and other irritants, like tobacco smoke, break down parts of your lung even faster. AAT is usually not diagnosed until the ages of 20-40.
Symptoms of AAT Deficiency
Shortness of breath (usually during exercise)
Heart beats fast when you stand up
Although there’s no cure for AAT deficiency, you can raise the amount of AAT protein in your blood, which protects you against more lung damage. Doctors call this augmentation therapy. You may also have this treatment if you get emphysema.
How do I get tested for Alpha-1 Antitrypsin Deficiency?
It is a simple blood test. Most insurances cover this test in full.
If you are concerned that you or a loved one may be suffering with AAT, call us today. We are happy to perform the bloodwork needed.
For more information please visit: https://rarediseases.info.nih.gov/diseases/5784/alpha-1-antitrypsin-deficiency
More questions? Contact Julie at LCOA and we will be glad to assist you.
Lung Center of America